S383R (p.Ser383Arg) variant of SMC1A (Q14683)
S383R (p.Ser383Arg) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital muscular hypertrophy-cerebral syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S383R (p.Ser383Arg) variant details
- p.Ser383Arg
- rs2520956183
- ClinGen CA413256796
- ClinVar RCV003625429
- Uncertain significance
- Congenital muscular hypertrophy-cerebral syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.30
- MetaSVM -0.67
- CADD 15.90
- ClinVar: Uncertain significance (Congenital muscular hypertrophy-cerebral syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)